Reproductive disorders part 1 Lecture 7 Flashcards
What reproductive disorders are covered in these lectures?
- Disorders of sexual development
- Infertility
- Menstural disorders
- Disorders of pregnancy
- Gynaecological disorders
- Male reproductive disorders
What is an example of DSD (disorder of sexual development?)
Disorders of gonadal differentiation
Whats a characteristic of all DSD?
Genetically caused.
What are some examples of disorders of gonadal differentiation?
- Klinefelters syndrome (47, XYY) (most common)
- Turners syndrome (45, X)
- Pure gonadal dysgenesis
- True hermaphroditism
Whats the prevalence of klinefelters syndrome?
1 in 600 male live births
What causes klinefelters syndrome?
Meiotic non-disjunction of the x chromosome of either parent (i.e baby ends up XXY)
What happens to the testis in Klinefelters syndrome?
Small firm atrophic testis devoid of sperm cells, impaired leydig cell function and absence of spermatogenesis
How does the extra X chromosome in klinefelters syndrome influence spermatogeneis?
The extra X chromosome does not permit the survival of germ cells in the testis resulting in azoospermia.
What happens to hormone levels in klinefelters syndrome?
Low androgen levels (Leydig cell function impaired)
High levels of FSH and LH and oestrogen’s.
What are some signs and symptoms of klinefelters syndrome?
- Tall 6ft plus
- Small external genitals
- Pear shaped body (feminine)
- Infertile or sterile
- Gynaecomastia (breast development in M.)
- Psychological problems
What causes turners syndrome (45XO)?
Complete or partial X chromosome MONOSOMY in a phenotypic female (i.e they only have on chromosome)
Whats the incidence of turners syndrome?
1 in 2500 live born females (most common chromosome disorder in females)
What does loss of an X chromosome in females turners syndrome lead to?
Loss of an X chromosome, leads to early loss of follicles, lack of ovarian development and usually infertility.
What are the characteristic clinical features of turners syndrome?
- Webbed neck
- Low hairline
- Low set ears
- Widely spaced nipples
- Short stature
- Ovaries, poorly formed or absent
- Incompleted sexual development
What is pure gonadal dysgenesis?
The progressive loss of primordial germ cells in the developing gonads of an embryo. Thus gonads won’t form so baby will appear as female.
Can have 46XX or 46XY.
What causes gondal dysgenesis?
The cause is unknown.
However, Either the germ cells do not form or interact with the gonadal ridge or undergo accelerated atresia so that at the end of childhood only a streak gonad is present, unable to induce pubertal changes.
Thus no T babies appear female.
Whats the incidence of true hermaphroditism?
Very rare
What is true hermaphroditism?
Combination of gonadal tissue is present.
What can form in true hermaphroditism?
Ovotestis- A combination of seminiferous tubules and ovarian follicles
or
Ovary on one side and testis on the other.
How many couples actually seek help for infertility?
1 in 6
When are a couple considered infertile?
A couple is consider infertile after a year of having unprotected sex and failing to become pregnant.
What are some sperm disorders?
- Failed or poor fertilisation
- poor sperm quality
- azoospermia
What is causes failed or poor fertilisation of sperm?
- Sperm factors (poor fertilising capacities)
- Egg factors (thick zone pellucid-smokers)
What causes poor sperm quality?
Oligiospermia (low count)
Teratosoospermia (increased abnormalities)
Asthenozoospermia (decreased motility)
Presence of sperm antibodies
Whats considered normal values for sperm volume, count and motility?
Volume/ml 2-6
count million/mil 20-250
Motility % 50+
What is considered infertile values for sperm volume, count and motility?
Volume/ml <1.5
count million/mil <10
Motility % <35
If a man has sperm problems how can this be remedied?
ICSI: Intracytoplasmic sperm injection
Only one sperm needs to be found in the testis and extracted to perform in vitro fertilisation
Does a low sperm volume correlate with infertility?
Not particularly
Does low sperm count mean infertility?
It doesn’t exclude it (ISCI)
What is sperm motility influenced by?
- Temperature
- Time?
What are the physical causes of male infertility?
Varicocele
Retrograde ejaculation
Orchitis
What is a varicocele and why does it cause male infertility?
Varicose vein in the testis, can raise temperature or restrict sperm movement
What is retrograde ejaculation and how does it influence fertility?
Semen flows into the bladder rather than the urethra during ejaculation (happens naturally a little bit)
caused by previous surgery, diabetes or certain medications.
What is orchitis?
Inflammation of the testis that can cause temporary of permanent infertility.
What can cause orchitis?
Infection from STI’s , bacterial of viral infections.
What are some genetic causes of male infertility?
Androgen Receptor mutations
Congenital Bilateral Absence of the Vas Defers (CBAVD)
Azoospermia Factor
What happens in androgen receptor mutation?
Mutation of the androgen receptor gene, leading to androgen resistance syndrome and therefore the dysfunction of the male repro system.
What is CBAVD?
Mutations in the cystic fibrosis gene results in 95% of CF patients having CBAVD. Sperm can be retrieved from the testis.
What is azoospermia factor?
Deletions of the AZF gene, located on the Y chromosome. Results in azoospermia or severe oligiospermia.
What are some causes of female infertility / ovulatory problems?
Endometriosis
Polycystic Ovarian Syndrome
Fibroids
Premature Ovarian Failure
Whats a infertility problem that is becoming more prevalent in the population?
Ovarian aging- fertility declines with age.
What are some prevalent tubal diseases?
Pelvic Inflammatory Disease (PID)
normally due to Chlamydia
What is pelvic inflammatory disease?
Blockage or damage to the uterine tubes normally due to chalmydia
or
Adhesions due to surgery or endometriosis.
What is normally the cause of PID?
Usually due to ascending microbes from the uterus or cervix, such as chlamydia.
What is the incidence of infertility and PID?
After a single episode of PID 10% of women are infertile and this increases every time.
What does chlamydia cause in females?
~50% of PID
Where is the main site of infection with chlamydia?
The cervix
What are the symptoms of chlamydia?
Spotting between periods
Yellowish vaginal discharge
frequent urination
How many women with chlamydia are symptomatic?
75% are Asymptomatic as are 50% of men
Whats associated with a high likelihood of tubal damage with chlamydia?
A raised chlamydia antibody tire is associated with a high likelihood of tubal damage.
Whats the treatment for chlamydia?
Antibotiotics
How many women will have antibodies for chalmydia?
20-40% of all women.
How do cervical factors influence fertility?
- Cervical hostility (not well defined)
- Sufficient cervical mucous (quantity and quality)
What may be present in the cervical mucous that will decrease fertility?
Sperm antibodies in women with long term partners.
These can prevent motility or fertilisation
What can bypass the antiserum antibodies?
ICSI or IVF
How does obesity influence fertility?
Obesity is associated with reduce fertility.
How does obesity influence ovulation and IVF?
Overweight women with PCOS are more likely to be anovular.
Overweight women undergoing IVF treatment have a reduced chance of pregnancy.
How does obesity influence pregnancy?
Overweight women are more likely to have pregnancy complications such as miscarriage, neural tube defects and more likely will need c section.
How does weight loss influence fertility in overweight women?
There is significant improvement in endocrine function and fertility with weight loss.
How does smoking influence fertility in females?
- Three times more likely to be infertile, correlates with n. cigs smoked.
- 50% higher miscarriage rate.
- Less likely to respond to fertility treatment
- Increased ectopic pregnancies
- Decreased uterine blood flow, increased intra uterine growth retardation, congenital abnormalities.
- Earlier onset of menopause.
How does smoking affect male fertility?
- Reduced sperm count and normal sperm structure
- Higher risk of impotence
- Increased birth defects and a higher incidence of childhood cancer
- Increased incidence in child asthma.
What is a uterus condition that affects fertility?
bi-cornate uterus.
What happens to women with bicornate uterus?
- Occurs in 1 in 250 women
- Spectrum of severity
- Associated with recurrent pregnancy loss, pre-term birth, and breach presentation.
What are some menstrual disorders?
- Amenorrhoea
- Menorrhagia
- Endometriosis
- Dysmenorrhoea
- Premenstural syndrome
What is amenorrhea?
Absence of period
What are the classifications of amenorrhoea?
Primary amenorrhoea: failure to menstruate once a BMI of 19 is attained
Secondary amenorrhoea: Failure to menstruate for three months of a women who has previously menstruated.
What is oligomenorrheoa?
Infrequent menstruation
What causes amenorrhoea?
Ovarian disorders
- Gonadal agenisis
- Gondal dysgenesis i.e turners dysgenesis
- POM
Disorders of the HPA
- Sports ammenhorea
- Pituitary adenomas
Inappropriate or excessive hormone production.
- PCOS
- Androgen secreting tutors of Ovi’s or testis
- Thyroid disease
what is POF?
Ovarian failure under the age of 40 years.
FSH >40 IU/L
1% all women and 0.1% under 30
What are the causes of POF?
- Chemo
- Ovary removal
- Mostly idiopathic
- Autoimmune conditons
What is sports amenorrhoea?
Low body fat levels and exercise related chemicals (endorphins) disrupt the interplay of oestrogen and progesterone.
What percentage of body weight must be fat for ideal fertility?
22%
Why must 22% of body weight be fat for ideal fertility?
adipose tissue is a significant source of oestrone, and the reduction in oestrone may reduce the oestrogen peak and prevent an LH surge.
How does sports ammenhorea relate to female athlete triad?
When too little energy is available after exercise, the body halts energy expenditure in other processes i.e menstrual cycle.
Those who restrict dietary intake or practice disorder eating are at higher risk.
What prevents sports ammenhorea?
Increased dietary intake in compensation for exercise energy expenditure
What is female athlete train?
- Disordered eating
- Menstural dysfunction
- Osteoporosis
